Annotation Detail
Information
- Associated Genes
- KLC1 XRCC3
- Associated Variants
-
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A
(
ENST00000555836.5,
ENST00000554280.5,
ENST00000557450.5,
ENST00000348520.10,
ENST00000554913.5,
ENST00000553264.5,
ENST00000555055.6,
ENST00000352127.11,
ENST00000334553.11,
ENST00000554974.5,
ENST00000452929.6 )
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000334553.11, ENST00000348520.10, ENST00000452929.6, ENST00000554280.5, ENST00000555836.5, ENST00000557450.5, ENST00000352127.11, ENST00000553264.5, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005432.4(XRCC3):c.722C>T (p.Thr241Met) AND not provided
- ClinVar Allele ID
- 23983
- ClinVar RefSeq Alternation Syntax
- NM_001394851.1:c.1645-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001100118.2:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001394844.1:c.1755-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001130107.2:c.1782-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001394842.1:c.1779-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001394843.1:c.1776-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001394848.1:c.1699-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001394852.1:c.1624-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371229.1:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001371231.1:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001371232.1:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001394846.1:c.1726-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001394834.1:c.1897-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001394836.1:c.1857-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_182923.4:c.1651-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001394839.1:c.1830-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001394832.1:c.1924-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_005432.4:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001100119.2:c.722C>T
- ClinVar RefSeq Alternation Syntax
- NM_001394837.1:c.1849-1239G>A
- ClinVar RefSeq Alternation Syntax
- NM_001394840.1:c.1822-1239G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-09-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003546454
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs